Currarino syndrome: does the presence of a genetic anomaly correlate with a more severe phenotype? A multicentre study.

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作者： Sara,Costanzo ^[1] ; Luigina,Spaccini ^[2] ; Luca,Pio ^[3] ; Girolamo,Mattioli ^[4] ; Calogero,Virgone ^[5] ; Patrizia,Dall'Igna ^[5] ; Barbara,Iacobelli ^[6] ; Alessandro,Inserra ^[6] ; Giulia,Brisighelli ^[7] ; Anna Maria,Fagnani ^[7] ; Ernesto,Leva ^[7] ; Giulia,Giannotti ^[8] ; Maurizio,Cheli ^[8] ; Paolo,Frumento ^[9] ; Giovanna,Riccipetitoni ^[10]

作者单位： Pediatric Surgery Unit, V. Buzzi Children's Hospital, Milan, Italy. Electronic address: saracostanzo@ymail.com. ^[1] Genetic Service, V. Buzzi Children's Hospital, Milan, Italy. ^[2] Pediatric Surgery Department, DINOGMI - University of Genoa, Genoa, Italy. ^[3] Pediatric Surgery Department, DINOGMI - University of Genoa, Genoa, Italy; Pediatric Surgery Unit, G. Gaslini Children's Hospital, Genoa, Italy. ^[4] Pediatric Surgery, Department of Women's and Children's Health, University of Padua, Padua, Italy. ^[5] Pediatric Surgery, Bambino Gesù Children's Hospital, Rome, Italy. ^[6] Pediatric Surgery Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. ^[7] Pediatric Surgery Unit, ASST Papa Giovanni XXIII, Bergamo, Italy. ^[8] Unit of Biostatistics, Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden. ^[9] Pediatric Surgery Unit, V. Buzzi Children's Hospital, Milan, Italy. ^[10]

关键词 Associated anomalies Currarino syndrome Genotype–phenotype correlation MNX1 gene